Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/C | Ancestral: G | Ambiguity code: S

Chromosome 12:40240594 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays